ClinVar Miner

Submissions for variant NM_000814.6(GABRB3):c.1081-17A>G

gnomAD frequency: 0.00003  dbSNP: rs963453392
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002112705 SCV002393666 likely benign Epilepsy, childhood absence, susceptibility to, 1; Epilepsy, childhood absence, susceptibility to, 5 2023-12-30 criteria provided, single submitter clinical testing

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